ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139755593
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
936971
ClinVar RCV Id:
RCV003656470
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_932173.1:p.Glu171Gly
CA352153917
NM_198056.3:c.512A>G